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Clinical-Genomics / genmod

Annotate models of genetic inheritance patterns in variant files (vcf files)
http://Clinical-Genomics.github.io/genmod/
MIT License
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Model discrepancy when chrX has chr prefix (GRCh38) #132

Closed fellen31 closed 1 month ago

fellen31 commented 2 months ago

Hi,

There seems to be a discrepancy on chrX when chromosomes are named with chr (male sample): 

chrX    12819 ... GeneticModels=FAM:AR_hom;ModelScore=FAM:6

which is not the case when chrX is named X:

X       12819   ... GeneticModels=FAM:XR|XD;ModelScore=FAM:6

It would also be good to check chrM vs MT.

Using genmod: 3.8.2.